Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the cerebrospinal fluid (HP:0002921)

Parent Node:
Abnormal CSF protein level (HP:0025456)

..Starting node
..Increased CSF protein (HP:0002922)

Term ID:

2922

Name:

Increased CSF protein

Synonym:

Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased protein in csf; Spinal fluid protein elevated

Definition:

Increased concentration of protein in the cerebrospinal fluid.

Comments:

Reference:

HP:0002922

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF amyloid level (HP:0030860)

Decreased CSF albumin concentration (HP:0025458)

Decreased CSF protein (HP:0025457)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002922	HP:0002922	Increased CSF protein	0	ABHD5 CL E G H	51099	98907				ORPHA	1	291	21396	604780
HP:0002922	HP:0002922	Increased CSF protein	0	ARSA CL E G H	410	309263				ORPHA	1	1140	713	607574
HP:0002922	HP:0002922	Increased CSF protein	0	ARSA CL E G H	410	309271				ORPHA	1	1140	713	607574
HP:0002922	HP:0002922	Increased CSF protein	0	ARSA CL E G H	410	309256				ORPHA	1	1140	713	607574
HP:0002922	HP:0002922	Increased CSF protein	0	ARSA CL E G H	410	250100	Metachromatic leukodystrophy	250100	C0023522	OMIM	1	1140	713	607574
HP:0002922	HP:0002922	Increased CSF protein	0	CD59 CL E G H	966	612300	CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy	612300	C2676767	OMIM	1	82	1689	107271
HP:0002922	HP:0002922	Increased CSF protein	0	EGR2 CL E G H	1959	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	373	3239	129010
HP:0002922	HP:0002922	Increased CSF protein	0	GALC CL E G H	2581	245200	Galactosylceramide beta-galactosidase deficiency	245200	C0023521	OMIM	1	1185	4115	606890
HP:0002922	HP:0002922	Increased CSF protein	0	GFAP CL E G H	2670	203450	Alexander's disease	203450	C0270726	OMIM	1	455	4235	137780
HP:0002922	HP:0002922	Increased CSF protein	0	MPZ CL E G H	4359	101082				ORPHA	1	607	7225	159440
HP:0002922	HP:0002922	Increased CSF protein	0	MPZ CL E G H	4359	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	607	7225	159440
HP:0002922	HP:0002922	Increased CSF protein	0	OCLN CL E G H	100506658	251290	Band-like calcification with simplified gyration and polymicrogyria	251290	C3489725	OMIM	1	138	8104	602876
HP:0002922	HP:0002922	Increased CSF protein	0	PEX7 CL E G H	5191	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	550	8860	601757
HP:0002922	HP:0002922	Increased CSF protein	0	PHYH CL E G H	5264	266500	Phytanic acid storage disease	266500	C0034960	OMIM	1	382	8940	602026
HP:0002922	HP:0002922	Increased CSF protein	0	PMP22 CL E G H	5376	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	492	9118	601097
HP:0002922	HP:0002922	Increased CSF protein	0	POLG CL E G H	5428	258450	Cerebellar ataxia infantile with progressive external ophthalmoplegia	258450	C1850303	OMIM	1	2324	9179	174763
HP:0002922	HP:0002922	Increased CSF protein	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	2324	9179	174763
HP:0002922	HP:0002922	Increased CSF protein	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	2324	9179	174763
HP:0002922	HP:0002922	Increased CSF protein	0	PRF1 CL E G H	5551	603553	Hemophagocytic lymphohistiocytosis, familial, 2	603553	C1863727	OMIM	1	505	9360	170280
HP:0002922	HP:0002922	Increased CSF protein	0	PRX CL E G H	57716	145900	Dejerine-Sottas disease	145900	C0011195	OMIM	1	1243	13797	605725
HP:0002922	HP:0002922	Increased CSF protein	0	PSAP CL E G H	5660	309271				ORPHA	1	772	9498	176801
HP:0002922	HP:0002922	Increased CSF protein	0	PSAP CL E G H	5660	309256				ORPHA	1	772	9498	176801
HP:0002922	HP:0002922	Increased CSF protein	0	PSAP CL E G H	5660	309263				ORPHA	1	772	9498	176801
HP:0002922	HP:0002922	Increased CSF protein	0	PSAP CL E G H	5660	611722	Krabbe disease atypical due to Saposin A deficiency	611722	C2673266	OMIM	1	772	9498	176801
HP:0002922	HP:0002922	Increased CSF protein	0	RANBP2 CL E G H	5903	88619				ORPHA	1	1372	9848	601181
HP:0002922	HP:0002922	Increased CSF protein	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	354	17296	604712
HP:0002922	HP:0002922	Increased CSF protein	0	SLC12A6 CL E G H	9990	218000	Andermann syndrome	218000	C0795950	OMIM	1	1185	10914	604878
HP:0002922	HP:0002922	Increased CSF protein	0	SUMF1 CL E G H	285362	272200	Multiple sulfatase deficiency	272200	C0268263	OMIM	1	746	20376	607939
HP:0002922	HP:0002922	Increased CSF protein	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	377	12405	176300
HP:0002922	HP:0002922	Increased CSF protein	0	TXN2 CL E G H	25828	478029				ORPHA	1	76	17772	609063
HP:0002922	HP:0002922	Increased CSF protein	0	TXN2 CL E G H	25828	616811	Combined oxidative phosphorylation deficiency 29	616811	C4225200	OMIM	1	76	17772	609063
HP:0002922	HP:0002922	Increased CSF protein	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	895	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002922	HP:0002922	Increased CSF protein	0	BTNL2 CL E G H	56244	797				ORPHA	0	30	1142	606000
HP:0002922	HP:0002922	Increased CSF protein	0	HLA-DRB1 CL E G H	3123	797				ORPHA	0	41	4948	142857
HP:0002922	HP:0002922	Increased CSF protein	0	PRNP CL E G H	5621	282166				ORPHA	0	191	9449	176640
HP:0002922	HP:0002922	Increased CSF protein	0	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	0	191	9449	176640

Genes (25) :ABHD5 ARSA BTNL2 CD59 EGR2 GALC GFAP HLA-DRB1 MPZ OCLN PEX7 PHYH PMP22 POLG PRF1 PRNP PRX PSAP RANBP2 RRM2B SLC12A6 SUMF1 TTR TXN2 TYMP

Diseases (26) :98907 309271 309263 309256 250100 797 612300 145900 245200 203450 101082 251290 266500 258450 298 203700 603553 282166 123400 611722 88619 218000 272200 105210 478029 616811

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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